Variant report

Variant	rs73212145
Chromosome Location	chr3:196001864-196001865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr3:196001359-196001908	K562	blood:	n/a	chr3:196001671-196001680 chr3:196001643-196001657 chr3:196001707-196001718 chr3:196001672-196001681
2	JUN	chr3:196000889-196002463	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
3	IRF1	chr3:196001502-196001907	K562	blood:	n/a	chr3:196001703-196001717 chr3:196001701-196001722 chr3:196001705-196001718 chr3:196001706-196001723 chr3:196001707-196001718 chr3:196001707-196001721 chr3:196001704-196001718 chr3:196001705-196001718 chr3:196001705-196001718 chr3:196001707-196001717
4	JUN	chr3:196001459-196001874	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
5	EP300	chr3:196001380-196001866	GM12878	blood:	n/a	chr3:196001671-196001680
6	TBL1XR1	chr3:196001399-196001903	K562	blood:	n/a	n/a
7	RFX5	chr3:196001507-196001916	GM12878	blood:	n/a	n/a
8	ARID3A	chr3:196001448-196002117	K562	blood:	n/a	n/a
9	ELK1	chr3:196001562-196001968	GM12878	blood:	n/a	n/a
10	IRF1	chr3:196001381-196002202	K562	blood:	n/a	chr3:196001703-196001717 chr3:196001701-196001722 chr3:196001705-196001718 chr3:196001706-196001723 chr3:196001707-196001718 chr3:196001707-196001721 chr3:196001704-196001718 chr3:196001705-196001718 chr3:196001705-196001718 chr3:196001707-196001717
11	TEAD4	chr3:196001336-196001887	K562	blood:	n/a	n/a
12	CCNT2	chr3:196001198-196001892	K562	blood:	n/a	chr3:196001296-196001316 chr3:196001407-196001416
13	RUNX3	chr3:196001392-196002389	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:196001304-196001911	GM12892	blood:	n/a	n/a
15	SMC3	chr3:196001548-196001907	GM12878	blood:	n/a	n/a
16	ATF2	chr3:196001354-196001914	GM12878	blood:	n/a	n/a
17	JUND	chr3:196001440-196001886	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
18	IRF1	chr3:196001313-196002119	K562	blood:	n/a	chr3:196001703-196001717 chr3:196001701-196001722 chr3:196001705-196001718 chr3:196001706-196001723 chr3:196001320-196001333 chr3:196001707-196001718 chr3:196001707-196001721 chr3:196001704-196001718 chr3:196001705-196001718 chr3:196001705-196001718 chr3:196001707-196001717
19	STAT1	chr3:196001378-196001870	K562	blood:	n/a	chr3:196001671-196001680 chr3:196001643-196001657 chr3:196001707-196001718 chr3:196001672-196001681
20	ZNF384	chr3:196001483-196001969	K562	blood:	n/a	n/a
21	JUN	chr3:196001475-196001896	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
22	FOXM1	chr3:196001444-196001894	GM12878	blood:	n/a	n/a
23	TBP	chr3:196001417-196002158	GM12878	blood:	n/a	n/a
24	STAT5A	chr3:196001351-196001920	K562	blood:	n/a	chr3:196001671-196001680 chr3:196001643-196001657 chr3:196001707-196001718 chr3:196001672-196001681
25	JUN	chr3:196001447-196001878	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
26	NFATC1	chr3:196001401-196001902	GM12878	blood:	n/a	n/a
27	NFIC	chr3:196001397-196002133	GM12878	blood:	n/a	n/a
28	PML	chr3:196001219-196001989	GM12878	blood:	n/a	n/a
29	STAT3	chr3:196001486-196001978	GM12878	blood:	n/a	chr3:196001671-196001680 chr3:196001643-196001657 chr3:196001707-196001718 chr3:196001672-196001681
30	ATF2	chr3:196001328-196001932	GM12878	blood:	n/a	n/a
31	BCLAF1	chr3:196001395-196001986	GM12878	blood:	n/a	chr3:196001671-196001680 chr3:196001707-196001716 chr3:196001672-196001681
32	ZNF384	chr3:196001487-196001866	GM12878	blood:	n/a	n/a
33	JUN	chr3:196001486-196001898	K562	blood:	n/a	chr3:196001668-196001679 chr3:196001672-196001680 chr3:196001673-196001680
34	EP300	chr3:196001409-196002169	K562	blood:	n/a	chr3:196001671-196001680
35	YY1	chr3:196001435-196001909	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:195807261..195808984-chr3:196001816..196004147,2	K562	blood:
2	chr3:195999654..196002310-chr3:196064662..196066658,2	K562	blood:
3	chr3:195971988..195973828-chr3:195999663..196002125,2	MCF-7	breast:
4	chr3:195999931..196002066-chr3:196007732..196009524,2	MCF-7	breast:

Variant related genes	Relation type
PCYT1A	TF binding region
ENSG00000072274	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000145107	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73212180	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
10	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
11	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
19	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195965800-196012400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:195969600-196012400	Weak transcription	Fetal Brain Male	brain
3	chr3:195974800-196005000	Weak transcription	Stomach Mucosa	stomach
4	chr3:195984800-196005000	Weak transcription	Fetal Heart	heart
5	chr3:195990400-196006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:195991800-196012400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:195993000-196005200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:195995400-196005200	Weak transcription	A549	lung
9	chr3:195996200-196005200	Weak transcription	HUVEC	blood vessel
10	chr3:195996600-196006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:195996600-196012600	Weak transcription	Fetal Kidney	kidney
12	chr3:195997400-196006200	Weak transcription	HSMM	muscle
13	chr3:195997400-196006400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:195997600-196007800	Weak transcription	Small Intestine	intestine
15	chr3:195997600-196010600	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:195997800-196005000	Weak transcription	NHDF-Ad	bronchial
17	chr3:195997800-196006200	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:195998400-196005000	Weak transcription	Hela-S3	cervix
19	chr3:195999600-196002000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr3:195999600-196002200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:195999600-196002200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:195999600-196002200	ZNF genes & repeats	Dnd41	blood
23	chr3:195999600-196002400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:196000000-196002000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr3:196000000-196005000	Weak transcription	HepG2	liver
26	chr3:196000000-196005800	Weak transcription	Pancreas	Pancrea
27	chr3:196000200-196002000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:196000200-196005200	Weak transcription	Psoas Muscle	Psoas
29	chr3:196000200-196006200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:196000400-196002000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:196000400-196005000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:196000400-196005400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:196000400-196006400	Weak transcription	HSMMtube	muscle
34	chr3:196000600-196002200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:196000600-196004600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:196000600-196005000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:196000600-196005000	Weak transcription	Osteobl	bone
38	chr3:196000600-196005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:196000600-196006200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:196000600-196006200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:196000600-196006200	Weak transcription	Colonic Mucosa	Colon
42	chr3:196000600-196011200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:196000600-196012400	Weak transcription	Fetal Brain Female	brain
44	chr3:196000600-196012600	Weak transcription	Fetal Lung	lung
45	chr3:196000600-196012800	Weak transcription	Ovary	ovary
46	chr3:196000600-196013800	Weak transcription	Aorta	Aorta
47	chr3:196000800-196002000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr3:196000800-196005000	Weak transcription	Adipose Nuclei	Adipose
49	chr3:196000800-196005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:196000800-196006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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